Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		19
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis		84
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III		216
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome		3179
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome		219
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked		169
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1		169
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		5
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome		314
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome		314
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome		13
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome		276
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome		147
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type		67
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome		215
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome		215
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia		222
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2		222
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia		222
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III		222
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1		373
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome		137
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome		6
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy		17
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome		17
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1		127
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1		27
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome		79
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1		14
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome		48
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome		92
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome		35
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2		114
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis		1361
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome		172
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA		145
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome		145
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome		145
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia		493
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome		233
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome		8
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities		3
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		200
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16		88
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major		580
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia		580
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome		33
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome		37
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation		16
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome		3
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type		345
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome		5
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome		13
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis		193
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome		276
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome		167
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome		196
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome		16
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome		16
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome		8
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome		645
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome		4
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome		124
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type		191
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC		92
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG		93
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome		134
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome		178
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome		252
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1		228
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome		33
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome		706
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease		39
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome		4
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome		1952
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome		59
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance		113
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency		66
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)		169
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B		65
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1		72
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation		57
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature		1129
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis		76
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1		36
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome		28
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures		6
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia		58
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type		58
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB		53
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		90
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome		135
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III		15
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive		120
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10		20
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3		53
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB		166
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency		122
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome		6
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome		1
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2		43
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome		32
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome		28
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome		55
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome		104
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome		6
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome		239
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome		253
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK		24
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome		140
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome		546
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1		98
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome		9
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome		7
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0010668	HP:0010668	Abnormal zygomatic bone morphology	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome		1
HP:0010668	HP:0000272	Malar flattening	1	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0010668	HP:0000272	Malar flattening	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0010668	HP:0000272	Malar flattening	1	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	84
HP:0010668	HP:0000272	Malar flattening	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0010668	HP:0000272	Malar flattening	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0010668	HP:0000272	Malar flattening	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0010668	HP:0000272	Malar flattening	1	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0010668	HP:0000272	Malar flattening	1	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0010668	HP:0000272	Malar flattening	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0000272	Malar flattening	1	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0010668	HP:0000272	Malar flattening	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0010668	HP:0000272	Malar flattening	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0010668	HP:0000272	Malar flattening	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0010668	HP:0000272	Malar flattening	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0010668	HP:0000272	Malar flattening	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0010668	HP:0000272	Malar flattening	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0010668	HP:0000272	Malar flattening	1	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0010668	HP:0000272	Malar flattening	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0010668	HP:0000272	Malar flattening	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0010668	HP:0000272	Malar flattening	1	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0010668	HP:0000272	Malar flattening	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0010668	HP:0000272	Malar flattening	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0010668	HP:0000272	Malar flattening	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0012370	Prominence of the zygomatic bone	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0010668	HP:0000272	Malar flattening	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0010668	HP:0000272	Malar flattening	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0010668	HP:0000272	Malar flattening	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0010668	HP:0000272	Malar flattening	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0010668	HP:0000272	Malar flattening	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0010668	HP:0000272	Malar flattening	1	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0010668	HP:0000272	Malar flattening	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0010668	HP:0000272	Malar flattening	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0010668	HP:0000272	Malar flattening	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0010668	HP:0000272	Malar flattening	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0010668	HP:0000272	Malar flattening	1	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0010668	HP:0000272	Malar flattening	1	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	222
HP:0010668	HP:0000272	Malar flattening	1	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0010668	HP:0000272	Malar flattening	1	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0010668	HP:0000272	Malar flattening	1	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0010668	HP:0000272	Malar flattening	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	284
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0010668	HP:0000272	Malar flattening	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0010668	HP:0000272	Malar flattening	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0010668	HP:0000272	Malar flattening	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0010668	HP:0000272	Malar flattening	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0010668	HP:0000272	Malar flattening	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0010668	HP:0000272	Malar flattening	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0010668	HP:0000272	Malar flattening	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0010668	HP:0010620	Malar prominence	1	CTDP1 CL E G H	9150	2498	OMIM:604168	Congenital cataracts, facial dysmorphism, and neuropathy	.	17
HP:0010668	HP:0010620	Malar prominence	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040281 - Very frequent	17
HP:0010668	HP:0000272	Malar flattening	1	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0010668	HP:0000272	Malar flattening	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0010668	HP:0000272	Malar flattening	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0010668	HP:0000272	Malar flattening	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0010668	HP:0000272	Malar flattening	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0010668	HP:0000272	Malar flattening	1	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0010668	HP:0000272	Malar flattening	1	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0010668	HP:0000272	Malar flattening	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0010668	HP:0000272	Malar flattening	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0010668	HP:0000272	Malar flattening	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0010668	HP:0000272	Malar flattening	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0010668	HP:0000272	Malar flattening	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0010668	HP:0000272	Malar flattening	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0010668	HP:0000272	Malar flattening	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0010668	HP:0000272	Malar flattening	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0010668	HP:0000272	Malar flattening	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0010668	HP:0000272	Malar flattening	1	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	HP:0040283 - Occasional
HP:0010668	HP:0000272	Malar flattening	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0010668	HP:0000272	Malar flattening	1	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	1361
HP:0010668	HP:0000272	Malar flattening	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0010668	HP:0000272	Malar flattening	1	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0010668	HP:0000272	Malar flattening	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0010668	HP:0000272	Malar flattening	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0010668	HP:0000272	Malar flattening	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0010668	HP:0000272	Malar flattening	1	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0010668	HP:0000272	Malar flattening	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0010668	HP:0000272	Malar flattening	1	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0010668	HP:0000272	Malar flattening	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0010668	HP:0000272	Malar flattening	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0010668	HP:0000272	Malar flattening	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0010668	HP:0000272	Malar flattening	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0010668	HP:0000272	Malar flattening	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0010668	HP:0000272	Malar flattening	1	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0010668	HP:0000272	Malar flattening	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0010668	HP:0000272	Malar flattening	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0010668	HP:0000272	Malar flattening	1	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0010668	HP:0000272	Malar flattening	1	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0010668	HP:0000272	Malar flattening	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0010668	HP:0000272	Malar flattening	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0010668	HP:0000272	Malar flattening	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0010668	HP:0000272	Malar flattening	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	52
HP:0010668	HP:0000272	Malar flattening	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0010668	HP:0000272	Malar flattening	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0010668	HP:0000272	Malar flattening	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0010668	HP:0000272	Malar flattening	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0010668	HP:0000272	Malar flattening	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0000272	Malar flattening	1	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0010668	HP:0000272	Malar flattening	1	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0010668	HP:0010620	Malar prominence	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0010668	HP:0010620	Malar prominence	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare	580
HP:0010668	HP:0000272	Malar flattening	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0010668	HP:0010620	Malar prominence	1	HDAC8 CL E G H	55869	13315	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	37
HP:0010668	HP:0000272	Malar flattening	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0010668	HP:0000272	Malar flattening	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0010668	HP:0000272	Malar flattening	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0010668	HP:0000272	Malar flattening	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0010668	HP:0000272	Malar flattening	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0010668	HP:0000272	Malar flattening	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0010668	HP:0000272	Malar flattening	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0010668	HP:0000272	Malar flattening	1	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0010668	HP:0000272	Malar flattening	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0010668	HP:0000272	Malar flattening	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0010668	HP:0000272	Malar flattening	1	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0010668	HP:0000272	Malar flattening	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0010668	HP:0000272	Malar flattening	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0010668	HP:0000272	Malar flattening	1	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0010668	HP:0000272	Malar flattening	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0010668	HP:0000272	Malar flattening	1	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0010668	HP:0010620	Malar prominence	1	LAS1L CL E G H	81887	25726	ORPHA:3459	Wilson-Turner syndrome	HP:0040281 - Very frequent	8
HP:0010668	HP:0000272	Malar flattening	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0010668	HP:0000272	Malar flattening	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0010668	HP:0000272	Malar flattening	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	.	289
HP:0010668	HP:0000272	Malar flattening	1	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0010668	HP:0000272	Malar flattening	1	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0010668	HP:0000272	Malar flattening	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0010668	HP:0000272	Malar flattening	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0010668	HP:0000272	Malar flattening	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0010668	HP:0000272	Malar flattening	1	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0010668	HP:0000272	Malar flattening	1	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0010668	HP:0000272	Malar flattening	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0010668	HP:0000272	Malar flattening	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0010668	HP:0000272	Malar flattening	1	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0010668	HP:0000272	Malar flattening	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0010668	HP:0000272	Malar flattening	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0000272	Malar flattening	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0000272	Malar flattening	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0010668	HP:0000272	Malar flattening	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010668	HP:0010620	Malar prominence	1	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0010668	HP:0000272	Malar flattening	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0010668	HP:0000272	Malar flattening	1	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0010668	HP:0000272	Malar flattening	1	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0010668	HP:0000272	Malar flattening	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0010668	HP:0000272	Malar flattening	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0010668	HP:0000272	Malar flattening	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0010668	HP:0000272	Malar flattening	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0010668	HP:0000272	Malar flattening	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0010668	HP:0000272	Malar flattening	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0010668	HP:0000272	Malar flattening	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0010668	HP:0000272	Malar flattening	1	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0010668	HP:0000272	Malar flattening	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0010668	HP:0010620	Malar prominence	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0010668	HP:0000272	Malar flattening	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0010668	HP:0000272	Malar flattening	1	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0010668	HP:0000272	Malar flattening	1	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0010668	HP:0000272	Malar flattening	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0010668	HP:0000272	Malar flattening	1	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0010668	HP:0000272	Malar flattening	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0010668	HP:0000272	Malar flattening	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0010668	HP:0000272	Malar flattening	1	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0010668	HP:0000272	Malar flattening	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0010668	HP:0000272	Malar flattening	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0010668	HP:0000272	Malar flattening	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0010668	HP:0000272	Malar flattening	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0010668	HP:0000272	Malar flattening	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0010668	HP:0000272	Malar flattening	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0010668	HP:0000272	Malar flattening	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0010668	HP:0000272	Malar flattening	1	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0010668	HP:0000272	Malar flattening	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0010668	HP:0000272	Malar flattening	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0010668	HP:0000272	Malar flattening	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0010668	HP:0000272	Malar flattening	1	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0010668	HP:0005557	Abnormal zygomatic arch morphology	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0010668	HP:0000272	Malar flattening	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0010668	HP:0000272	Malar flattening	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0010668	HP:0000272	Malar flattening	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0010668	HP:0000272	Malar flattening	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0010668	HP:0000272	Malar flattening	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0010668	HP:0000272	Malar flattening	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0010668	HP:0000272	Malar flattening	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0010668	HP:0000272	Malar flattening	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0010668	HP:0000272	Malar flattening	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0010668	HP:0000272	Malar flattening	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0010668	HP:0000272	Malar flattening	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0010668	HP:0000272	Malar flattening	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0010668	HP:0000272	Malar flattening	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0010668	HP:0000272	Malar flattening	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0010668	HP:0000272	Malar flattening	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0010668	HP:0000272	Malar flattening	1	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0010668	HP:0000272	Malar flattening	1	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0010668	HP:0000272	Malar flattening	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0010668	HP:0000272	Malar flattening	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0010668	HP:0000272	Malar flattening	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0010668	HP:0000272	Malar flattening	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	53
HP:0010668	HP:0000272	Malar flattening	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0010668	HP:0000272	Malar flattening	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.	31
HP:0010668	HP:0000272	Malar flattening	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0010668	HP:0000272	Malar flattening	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0010668	HP:0000272	Malar flattening	1	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0010668	HP:0000272	Malar flattening	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0010668	HP:0000272	Malar flattening	1	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.	2
HP:0010668	HP:0000272	Malar flattening	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0010668	HP:0000272	Malar flattening	1	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0010668	HP:0000272	Malar flattening	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0010668	HP:0000272	Malar flattening	1	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0010668	HP:0000272	Malar flattening	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0010668	HP:0000272	Malar flattening	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0010668	HP:0000272	Malar flattening	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0010668	HP:0000272	Malar flattening	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0010668	HP:0000272	Malar flattening	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0010668	HP:0000272	Malar flattening	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0010668	HP:0000272	Malar flattening	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0010668	HP:0000272	Malar flattening	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0010668	HP:0000272	Malar flattening	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0010668	HP:0000272	Malar flattening	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0010668	HP:0000272	Malar flattening	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010668	HP:0000272	Malar flattening	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0010668	HP:0000272	Malar flattening	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0010668	HP:0000272	Malar flattening	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent	49
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0010668	HP:0000272	Malar flattening	1	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0010668	HP:0000272	Malar flattening	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0010668	HP:0000272	Malar flattening	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0010668	HP:0000272	Malar flattening	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0010668	HP:0000272	Malar flattening	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0010668	HP:0000272	Malar flattening	1	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0010668	HP:0000272	Malar flattening	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0010668	HP:0000272	Malar flattening	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0010668	HP:0000272	Malar flattening	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0010668	HP:0000272	Malar flattening	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0010668	HP:0000272	Malar flattening	1	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0010668	HP:0000272	Malar flattening	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0010668	HP:0000272	Malar flattening	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0010668	HP:0000272	Malar flattening	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0010668	HP:0000272	Malar flattening	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0010668	HP:0000272	Malar flattening	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0010668	HP:0000272	Malar flattening	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0010668	HP:0000272	Malar flattening	1	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional	43
HP:0010668	HP:0000272	Malar flattening	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0010668	HP:0000272	Malar flattening	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0010668	HP:0000272	Malar flattening	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0010668	HP:0000272	Malar flattening	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0010668	HP:0000272	Malar flattening	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0010668	HP:0000272	Malar flattening	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0010668	HP:0000272	Malar flattening	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0010668	HP:0000272	Malar flattening	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0010668	HP:0000272	Malar flattening	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0010668	HP:0000272	Malar flattening	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040281 - Very frequent	6
HP:0010668	HP:0000272	Malar flattening	1	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0010668	HP:0000272	Malar flattening	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0010668	HP:0000272	Malar flattening	1	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0010668	HP:0000272	Malar flattening	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0010668	HP:0000272	Malar flattening	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional	24
HP:0010668	HP:0000272	Malar flattening	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0010668	HP:0000272	Malar flattening	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0010668	HP:0000272	Malar flattening	1	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0010668	HP:0000272	Malar flattening	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0010668	HP:0000272	Malar flattening	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010668	HP:0005557	Abnormal zygomatic arch morphology	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010668	HP:0000272	Malar flattening	1	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0010668	HP:0000272	Malar flattening	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0010668	HP:0010669	Hypoplasia of the zygomatic bone	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010668	HP:0000272	Malar flattening	1	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0010668	HP:0010620	Malar prominence	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0010668	HP:0000272	Malar flattening	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0010668	HP:0000272	Malar flattening	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent	7
HP:0010668	HP:0000272	Malar flattening	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0010668	HP:0000272	Malar flattening	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0010668	HP:0034260	Aplastic zygomatic arch	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0010668	HP:0005439	Maxillozygomatic hypoplasia	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010668	HP:0034260	Aplastic zygomatic arch	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7